Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.H104fs

CCM2

172 papers

RefSeq Summary

This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein...

Pfam Domains

CCM2_Caa 287–387UCSCCerebral cavernous malformation protein, harmonin-homology

Gene Aliases

HGNC Name

CCM2 scaffold protein

HGNC Previous Symbol

C7orf22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031443.4
p.H104fs
c.310_311fs
Surrounding Variants
1 paper
NM_031443.4
p.L105delFs
c.314delT
1 paper
NM_031443.4
p.P102insFs
c.305dupC
3 papers
NM_031443.4
p.Q107*
c.319C>T
2 papers
NM_031443.4
p.H109fs
c.325_326fs
1 paper
NM_031443.4
p.H99fs
c.295_296fs
1 paper
NM_031443.4
p.A98T
c.292G>A
1 paper
NM_001029835.2
p.D131N
c.391G>A
1 paper
NM_031443.4
p.H99delFs
c.295delC
2 papers
NM_031443.4
p.A111P
c.331G>C
1 paper
NM_031443.4
p.K96_R97Splc
c.289-1G>A
1 paper
NM_031443.4
p.L113_S116del4
c.337_347del12
5 papers
NM_031443.4
p.L113P
c.338T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."